A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1

Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant disorder characterized by hair hypopigmentation, abnormal iris pigmentation, and congenital hearing loss. WS1 is caused by mutations in paired box gene 3 (PAX3). We identified a novel PAX3 mutation (c.1107 C>G, p.Ser369Arg) in a Japan...

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Detalles Bibliográficos
Autores principales: Yoshida, Yu, Doi, Rieko, Adachi, Kaori, Nanba, Eiji, Kodani, Isamu, Ryoke, Kazuo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4775770/
https://www.ncbi.nlm.nih.gov/pubmed/27081571
http://dx.doi.org/10.1038/hgv.2016.5

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